- On May 6, 2020
- May / June 2020
Q&A A/Prof Yvonne Zurynski
A/Prof Yvonne Zurynski welcomes Australia’s first action plan to support people with rare diseases. The National Strategic Action Plan for Rare Diseases will support equitable access to healthcare.
Q: How long has Rare Voices Australia been advocating for the development of an Action Plan?
A: Basically since it was established. But even before that people were advocating for a national plan to bring Australia in line with other countries.
Q: What will this plan mean for people living with rare diseases, their families and carers?
A: First and foremost it’s a huge recognition of the difficulties people with rare diseases face on a daily basis as they seek a diagnosis and they seek to access the health and support services that they need. We’re hoping that the plan will certainly raise awareness and improve education around rare diseases, and we hope that access to care and support will improve for patients and for families. It’s about the patient, but there is always a family around that person who are also struggling and stressed by not having a diagnosis being able to access a service. Particularly families of children with rare conditions find it very difficult not knowing what’s happening, not being able to access services, and some families blame themselves and think back to was it something I had done? So having that diagnosis is not only important to the families from that point of view, but also having a diagnosis unlocks many doors to access services in our health system.
Q: How will this impact medical professionals in the delivery of care for people with Rare Diseases?
A: We’re hoping health professionals will become more aware of rare diseases in general. It isn’t possible for every health professional to know about the different 7000 rare diseases, but this will help them to be aware of the difficulties patients and families face. Rare diseases are complex and chronic and often people need large teams of health professionals and so the siloing of our health professions can get in the way. So if they have a team of five different specialists looking after them and they have to have separate appointments with five different specialists – that’s a huge problem… particularly families living in rural areas where they have to travel to access specialised services.
Q: How can Australia make better use of data to measure and track rare disease?
A: There is a lack of data about rare diseases particularly in Australia, although things are changing. We have called for a national approach to data collection on rare diseases. Ensuring rare diseases are actually coded on medical records would be a good start. For Australian patients to be registered to registries that already exist locally and overseas would be fantastic. Health professionals being aware that registries do exist for some of these rare conditions and it’s quite important to register the patient in them, with the patient’s consent, because that’s how we learn – that’s how we learn about these rare diseases.
Those international collections are really important because we won’t be able to solve the problems that people face in one country, in one state.
Q: Are there any other countries that Australia should be looking to emulate in their approach to rare disease – not only in terms of facilitating more research but also funding for treatment options and clinical trials?
A: We can learn from other countries that already have enacted rare diseases plans, but in the end I think it needs to be a plan that fits our local context and serves our rare diseases population. So yes, the French have had a national plan for rare diseases since 2004 and the US enacted the Rare Diseases Act in 2002, and the United Kingdom put together a strategy for Rare Diseases in 2013. I think we can learn from those countries, but whatever they’ve done we need to adapt to our local context.
Q: Lastly, how did you get involved with Rare Voices Australia?
A: I have a long history of working with people with rare diseases, particularly with children. So at one point I worked with the Australian Paediatric Surveillance unit which collects data on rare conditions. My current interest is in health services for people with chronic and complex conditions which includes rare diseases, so I’m very much interested in integrated care across health sectors as well as integrating care between the health sector and the community sector for instance, so making sure we’re addressing the whole person. So that’s how I came into it. I visited a few countries overseas, including France and England and looked at their plans way back in 2010 and a group of us published a paper calling for a national plan for rare diseases.
So it’s been a long time coming and it’s really fantastic to have this recognition now and hopefully have some action to really change the experiences of people living with rare diseases.